Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the hellenic population of Greece and Cyprus: Incidence, genetic variation, and stability

American Journal of Medical Genetics

Volumn 84, Issue 3, 1999, Pages 184-190

  Patsalis, Philippos C ^a   Sismani, C ^a   Hettinger, J A ^a   Boumba, I ^b   Georgiou, I ^b   Stylianidou, G ^b   Anastasiadou, V ^c   Koukoulli, R ^a   Pagoulatos, G ^b   Syrrou, M ^b  

^a CYPRUS INSTITUTE OF NEUROLOGY AND GENETICS   (Cyprus)

^b UNIVERSITY OF IOANNINA   (Greece)

^c Makarios III Medical Center   (Cyprus)

Author keywords

FRAXA; FRAXE; Frequency; Population screening; Stability

Indexed keywords

ADULT; ARTICLE; CHILD; CYPRUS; FEMALE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC ANALYSIS; GENETIC STABILITY; GENETIC VARIABILITY; GREECE; HAPLOTYPE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MARKER GENE; MASS SCREENING; MENTAL DEFICIENCY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD, PRESCHOOL; CYPRUS; DNA; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; GREECE; HAPLOTYPES; HUMANS; MALE; MENTAL RETARDATION; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PROTEINS; RNA-BINDING PROTEINS; TANDEM REPEAT SEQUENCES; TRANS-ACTIVATORS;

EID: 0033612137     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990528)84:3<184::AID-AJMG2>3.0.CO;2-B     Document Type: Article

References (38)

1. Allingham-Hawkins DJ, Ray PN. 1995. FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 56:72-76.
2. Brown WT. 1996. The FRAXE syndrome: is it time for routine screening? Am J Hum Genet 58:903-905.
3. Brown WT, Houck GE, Jeziorowska A, Ding X, Dobkin C, Levinson F, Zhong N, Sklower-Brooks S, Jenkins EC. 1993. Rapid fragile X carrier screening and prenatal diagnosis by a non-radioactive PCR test. JAMA 270:1569-1575.
4. Center for the Prevention of Mental Retardation (CPMR). 1991. Study for people with mental retardation in Cyprus.
5. Chakrabarti L, Knight SJL, Flannery AV, Davies KE. 1996. A candidate gene for mild mental handicap at the FRAXE fragile site. Hum Mol Genet 5:275-282.
6. Chiurazzi P, Destro-Bisol G, Genuardi M, Oostra BA, Spedini G, Neri G. 1996. Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. Am J Med Genet 64:216-219.
7. Chung M, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. 1993. Evidence of a mechanism predisposing to intergenerational CAG repeat instability in Spinocerebellar ataxia type 1. Nat Genet 5:254-258.
8. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL. 1994. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8: 88-94.
9. Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. 1997. Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype. Am J Hum Genet 60:103-112.
10. Hagerman RJ, Wilson P, Staley LW, Lang KA, Fan T, Uhlhorn C, Jewell-Smart S, Hull C, Drisko J, Flom K, Taylor AK. 1994. Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing. Am J Med Genet 51:474-481.
11. Hofstee Y, Arinami T, Hamaguchi H. 1994. Comparison between the cytogenetic test for fragile X and the molecular analysis for the FMR-1 gene in Japanese mentally retarded individuals. Am J Med Genet 51:466-470.
12. Holden JJA, Julien-Inalsingh C, Chalifoux M, Wing M, Scott E, Fidler K, Swift I, Maidment B, Knight SJL, Davies KE, White BN. 1996. Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities. Am J Med Genet 64:420-423.
13. Holden JJA, Schutz C, Chalifoux M, Julien-Inalsingh C, Fidler K, Swift I, Welch P, Scott E, Ives E, Macgregor D. 1997a. Molecular testing of FRAXE in Canadian males with develomental disability. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
14. Holden JJA, Schutz C, Chalifoux M, Julien-Inalsingh C, Wing M, Walker M, Fidler K, Swift I, Scott E, Ives E, Macgegor D, Welch P, White BN. 1997b. Molecular testing of FMR1 in Canadian males with developmental disability. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
15. Jeffreys AJ, Tamaki K, MacLeod A, Monckton DG, Neil DL, Armour JAL. 1994. Complex gene conversion events in germline mutation at human minisatellites. Nat Genet 6:136-145.
16. Kaplan G, Kung M, McClure M, Cronister A. 1994. Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis. Am J Med Genet 51:501-502.
17. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
18. Knight SJL, Ritchie RJ, Chakrabarti L, Cross G, Taylor GR, Mueller RF, Hurst J, Peterson J, Yates JRW, Dow DJ, Davies KE. 1996. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Am J Hum Genet 58:906-913.
19. Knight SJL, Voelckel, Hirst MC, Flanner Av, Moncla A, Davies KE. 1994. Triple repeat expansions at the FRAXE locus and X-linked mild mental handicap. Am J Hum Genet 55:81-86.
20. Longshare JW, Schwartz C, Tarleton JC. 1998. Molecular diagnosis of FRAXE: results from 600 referrals for diagnostic testing. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
21. Mazzocco M, Myers GF, Reiss AL. 1998. Prevalence of FMR1 and FMR2 mutations among preschoolers clinically referred for language delay. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
22. Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P. 1996. Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers. Hum Mol Genet 5:727-735.
23. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys C, Hanauer A, Boue J, Bertheas MF, Mandel JL. 1991. Instability of a 550-base pair DNA segment and abnormal methylation in the fragile X syndrome. Science 252:1097-1102.
24. Patsalis PC, Sismani C, Stylianou S, Ioannou P, Joseph G, Manoli P, Holden JJA, Hettinger JA. 1998. Molecular investigation of the genetic variation and intergenerational FMR1-repeat instability in 100 three generation families from the normal general population. Am J Med Genet 84:000-000.
25. Perroni L, Grasso M, Argusti A, Lo Nigro C, Crori GF, Zelante L, Garani GP, Dagna Bricarelli F. 1996. Molecular and cytogenetic analysis of the fragile X syndrome in a series of 453 mentally retarded subjects: a study of 87 families. Am J Med Genet 64:176-180.
26. Richards RI, Sutherland GR. 1994. Simple repeat DNA is not replicated simply. Nat Genet 6:114-116.
27. Rousseau F, Heitz D, Biancalana V, Oberlé I, Mandel JL. 1992. On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 43:197-207.
28. Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN. 1994. Sequence analysis of the fragile X trinucleotide repeat: Implications for the origin of the fragile X mutation. Hum Mol Genet 3:1543-1551.
29. Sultana MH, Lam-Po-Tang PRL, Leigh D, Buckley M, Holden JJA. 1998. Molecular screening for fragile X syndrome in Indonesian children with developmental disability. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
30. Turner G, Robinson H, Laing S, Purvis-Smith S. 1986. Preventing screening for the fragile X syndrome. N Engl J Med 315:607-609.
31. Turner G, Webb T, Wake S, Robinson H. 1996. Prevalence of fragile X syndrome. Am J Med Genet 64:196-197.
32. Van den Ouweland AMW, de Vries BBA, Bakker PLG, Deelen WH, de Graaff E, van Hemel JO, Oostra BA, Niermeijer MF, Halley DJJ. 1994. DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene. Am J Med Genet 51:482-485.
33. Von Koskull H, Gahmberg N, Salonen R, Salo A, Peippo M. 1994. FRAXA locus in fragile X diagnosis: family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardaion. Am J Med Genet 51:486-489.
34. Wang Q, Green E, Barnicoat A, Garrett D, Mullarkey M, Bobrow M, Mathew CG. 1993. Cytogenetic versus DNA diagnosis in routine referrals for fragile X syndrome. Lancet 342:1025-1026.
35. Youings SA, Dennis N, McKechnie N, Morton N, Murray A, Pound M, Sharrock A, Jacobe PA. 1998. An update on FRAX screening in boys with special educational needs, and stability of transmission. In: 8th International Workshop on the Fragile X Syndrome and X-linked Mental Retardation, August 1997, Picton, Canada. (Abstract).
36. Zhong N, Dobkin C, Brown WT. 1993. A complex mutable polymorphism located within the fragile X gene. Nat Genet 5:248-253.
37. Zhong N, Yang W, Dobkin C, Brown WT. 1995. Fragile X gene instability: anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361.
38. Zhong N, Ye L, Dobkin C, Brown WT. 1994. Fragile X founder chromosome effects: linkage disequilibrium or microsatellite heterogeneity? Am J Med Genet 51:405-411.